ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.97C>T (p.Arg33Ter)

dbSNP: rs387906651
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550085 SCV000637883 pathogenic Hereditary pheochromocytoma-paraganglioma 2022-01-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 29788). This premature translational stop signal has been observed in individual(s) with sporadic or hereditary pheochromocytoma (PMID: 21685915, 22452945, 27838885). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg33*) in the MAX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAX are known to be pathogenic (PMID: 21685915, 26070438).
Ambry Genetics RCV000562852 SCV000664488 pathogenic Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing The p.R33* pathogenic mutation (also known as c.97C>T), located in coding exon 3 of the MAX gene, results from a C to T substitution at nucleotide position 97. This changes the amino acid from an arginine to a stop codon within coding exon 3. This mutation has been reported in numerous patients with early-onset pheochromocytoma and paraganglioma (Comino-Méndez I et al. Nat. Genet. 2011 Jun;43:663-7; Burnichon N et al. Clin. Cancer Res. 2012 May;18:2828-37). This mutation was also identified in a 25 year-old male with multiple bilateral pheochromoctyomas and bilateral adrenal medullary hyperplasia with all demonstrating negative MAX immunostaining (Romanet P et al. Endocr. Pathol. 2016 Nov [epub ahead of print]). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003328552 SCV004035131 pathogenic Pheochromocytoma 2023-09-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg33*) in the MAX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAX are known to be pathogenic (PMID: 21685915, 26070438). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with sporadic or hereditary pheochromocytoma (PMID: 21685915, 22452945, 27838885). ClinVar contains an entry for this variant (Variation ID: 29788) classified as Pathogenic . For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000022655 SCV000043944 risk factor Pheochromocytoma, susceptibility to 2011-06-19 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.